Kayoko Saito

Y. Goto, S. Saitoh, Kayoko Saito, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Kobe University Repository : Kernel タイトル Tit le SMA Screening System Using Dried Blood Spots on Filter Paper : Applicat ion of COP-PCR to the SMN 1 Delet ion Test 著者

H. Nishio, A. Sadewa, Nozomu Katō, 2018 .

SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA.

H. Nishio, Mawaddah Ar Rochmah, N. Harahap, 2017, The Kobe journal of medical sciences.

Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA

Y. Takeshima, H. Nishio, N. Harahap, 2017, Brain and Development.

New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion.

H. Nishio, Mawaddah Ar Rochmah, N. Harahap, 2017, The Kobe journal of medical sciences.

Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners

Kayoko Saito, N. Iwasaki, S. Shimizu, 2017, Journal of Genetic Counseling.

Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation

T. Nakayama, Kayoko Saito, M. Ōsawa, 2006, Pediatrics international : official journal of the Japan Pediatric Society.

Spinal muscular atrophy carriers with two SMN1 copies

H. Nishio, N. Harahap, Toshio Saito, 2017, Brain and Development.

A Pilot Proficiency Testing Study for Assessing Cancer Gene Panel using Patient Samples and Next-generation Sequencing in Japan

Y. Yatabe, Misa Fuchioka, K. Nishio, 2021 .

Epidemiological investigation of spinal muscular atrophy in Japan

K. Nakashima, Kayoko Saito, M. Matsuo, 2013, Brain and Development.

Respiratory management of patients with Fukuyama congenital muscular dystrophy

Kayoko Saito, Takatoshi Sato, M. Ōsawa, 2016, Brain and Development.

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

R. Redon, N. Hagiwara, M. Horie, 2017, Journal of the American College of Cardiology.

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

H. Nishio, Nihayatus Sa’adah, Mawaddah Ar Rochmah, 2015, Pediatric Neurology.

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

I. Nonaka, I. Nishino, T. Furukawa, 2012, American journal of medical genetics. Part A.

A de novo 1.9‐Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

Kayoko Saito, Toshiyuki Yamamoto, K. Shimojima, 2009, American journal of medical genetics. Part A.

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

M. Schroth, D. Zafeiriou, Y. Chien, 2021, Neuromuscular Disorders.

Nusinersen versus Sham Control in Later‐Onset Spinal Muscular Atrophy

R. Finkel, E. Mazzone, E. Mercuri, 2018, The New England journal of medicine.

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

G. Comi, S. Corti, E. Mazzone, 2022, The Lancet Neurology.

Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

Y. Takeshima, H. Nishio, M. Matsuo, 2019, The Kobe journal of medical sciences.

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA

H. Nishio, Nihayatus Sa’adah, N. Harahap, 2015, Brain and Development.

Precision cancer genome testing needs proficiency testing involving all stakeholders

Y. Yatabe, Misa Fuchioka, K. Nishio, 2022, Scientific Reports.

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2

H. Nishio, M. Matsuo, N. Harahap, 2018, Brain and Development.

Valproic Acid Treatment for Spinal Muscular Atrophy Patient with Abnormal Electroencephalogram Findings

H. Nishio, Toshio Saito, Kayoko Saito, 2017 .

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

Y. Takeshima, H. Nishio, Toshio Saito, 2021, International journal of neonatal screening.

Nested PCR Amplification Secures DNA Template Quality and Quantity in Real-time mCOP-PCR Screening for SMA.

Y. Takeshima, H. Nishio, N. Harahap, 2019, The Kobe journal of medical sciences.

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein

Y. Takeshima, H. Nishio, N. Harahap, 2017, Brain and Development.

Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan

H. Nishio, Kayoko Saito, Yukihiko Konishi, 2019, Brain and Development.

Nusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy

R. J. Ramamurthi, S. Y. Kim, H. Y. Wang, 2017, The New England journal of medicine.

Phenotypes of SMA patients retaining SMN1 with intragenic mutation

Y. Takeshima, H. Nishio, Toshio Saito, 2021, Brain and Development.

Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR.

Y. Takeshima, H. Nishio, Toshio Saito, 2019, The Kobe journal of medical sciences.

Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma

T. Miyashita, Y. Kohno, Kayoko Saito, 2012, American journal of medical genetics. Part A.

Computed tomography and magnetic resonance imaging of affected muscle in childhood acid α-glucosidase deficiency: a case report

Kayoko Saito, M. Ōsawa, Y. Fukuyama, 1993, Brain and Development.

Prenatal diagnosis of Fukuyama congenital muscular dystrophy

Kayoko Saito, 2006, Prenatal diagnosis.

Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes

Kayoko Saito, T. Toda, M. Ōsawa, 1997, Brain and Development.

Abnormality of cerebral gangliosides in Fukuyama type congenital muscular dystrophy

Kayoko Saito, Kentaro Hara, S. Takashima, 1995, Brain and Development.

Enhanced expression of myogenic differentiation factors and skeletal muscle proteins in human amnion-derived cells via the forced expression of MYOD1

Kayoko Saito, H. Fujii, Y. Matsuda, 2013, Brain and Development.

Cells of extraembryonic mesodermal origin confer human dystrophin in the Mdx model of duchenne muscular dystrophy

M. Toyoda, Kayoko Saito, Yoriko Takahashi, 2010, Journal of cellular physiology.

Percutaneous needle muscle biopsy in the diagnosis of neuromuscular disorders in children. Histological, histochemical and electron microscopic studies

Kayoko Saito, Y. Fukuyama, Yoko Suzuki, 1981, Brain and Development.

Human first-trimester chorionic villi have a myogenic potential

Kayoko Saito, M. Arakawa, R. Arakawa, 2012, Cell and Tissue Research.

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

I. Kanazawa, Yusuke Nakamura, I. Nonaka, 1998, Nature.

Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders

Kayoko Saito, Y. Kitamura, E. Kondo, 2016, Journal of Human Genetics.

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.

C. Ruivenkamp, Kayoko Saito, M. Breuning, 2014, European journal of medical genetics.

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients

Y. Tohyama, Y. Takeshima, H. Nishio, 2014, Brain and Development.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

S. Sugano, S. Tsuji, T. Yuasa, 2001, Nature Genetics.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

S. Weiss, D. Chitayat, H. Arai, 2013, Epilepsia.

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

Kayoko Saito, Toshiyuki Yamamoto, M. Matsuo, 2013, Molecular Cytogenetics.

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit

T. Miyashita, Kayoko Saito, Y. Nagashima, 2016, American journal of medical genetics. Part A.

A case of diabetes mellitus associated with severe sleep apnea and Prader–Willi syndrome

Kayoko Saito, H. Sakura, Y. Iwamoto, 2014, Diabetology International.

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

M. Kubota, A. Oka, Kayoko Saito, 2010, Brain and Development.

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2

Kayoko Saito, K. Shiomi, H. Takashima, 2018, Journal of Human Genetics.

A Study of valproic acid for patients with spinal muscular atrophy

S. Sakoda, H. Nishio, N. Harahap, 2015 .

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

Y. Tohyama, Y. Takeshima, H. Nishio, 2013, Annals of human genetics.

Experimental intrauterine infection of akabane virus Pathological studies of skeletal muscles and central nervous system of newborn hamsters with relevances to the fukuyama type congenital muscular dystrophy

Kayoko Saito, Y. Fukuyama, A. Oya, 1981, Brain and Development.

Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients.

Takahiko Hara, Kayoko Saito, Shiki Okamoto, 2004, The American journal of pathology.

Charcot‐marie‐tooth disease type 4C in Japan: Report of a case

Y. Shimizu, Kayoko Saito, S. Uchiyama, 2013, Muscle & nerve.

RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

R. Finkel, E. Mercuri, F. Muntoni, 2020, Journal of Neuromuscular Diseases.

Molecular evidence of clinical heterogeneity in Fukuyama type congenital muscular dystrophy

Kayoko Saito, T. Toda, M. Ōsawa, 1997, Neuromuscular Disorders.

Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy

S. Tsuji, Kayoko Saito, T. Toda, 1997, Human Genetics.

TEN PATIENTS WITH KABUKI MAKE-UP ( NIIKAWA-KUROKI ) SYNDROME Miyako

Kayoko Saito, H. Oguni, Y. Fukuyama, 2009 .

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

N. Niikawa, N. Kato, M. Matsuura, 2012, Journal of Human Genetics.

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Munhyang Lee, Y. Hayashi, I. Nishino, 2003, Human molecular genetics.

Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

U. Stephani, H. Lerche, Y. Weber, 2004, Epilepsia.

Altered glycosylation of α-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains

M. Mizuguchi, Kayoko Saito, M. Ōsawa, 2006, Brain Research.

Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy

M. Mizuguchi, Kayoko Saito, M. Ōsawa, 2004, Brain and Development.

Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy

Kayoko Saito, M. Ōsawa, Makio Kobayashi, 1997, Brain and Development.

Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy

Kayoko Saito, M. Ōsawa, Makio Kobayashi, 2002, Acta Neuropathologica.

Proliferation without nuclei suggests mitochondrial cells (MitoCells) to be prokaryotic nature

T. Nakayama, Kayoko Saito, M. Ōsawa, 2017 .

Bibliography of congenital muscular dystrophies: Series V (2001)

Kayoko Saito, Y. Fukuyama, 2003, Brain and Development.

Corticosteroid therapy for duchenne muscular dystrophy: improvement of psychomotor function.

Kayoko Saito, E. Kondo, Yuko Sato, 2014, Pediatric neurology.

Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.

T. Miyashita, Kayoko Saito, K. Fujii, 2010, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

Imaging Flow Cytometry Analysis to Identify Differences of Survival Motor Neuron Protein Expression in Patients With Spinal Muscular Atrophy.

Kayoko Saito, M. Arakawa, R. Arakawa, 2016, Pediatric neurology.

New insights into the pathogenesis of spinal muscular atrophy

Kayoko Saito, N. Shibata, M. Ōsawa, 2011, Brain and Development.

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing

H. Nishio, Kayoko Saito, Yuji Kubo, 2015, Journal of Human Genetics.

Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients

Kayoko Saito, R. Arakawa, K. Kaneko, 2017, Brain and Development.

Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)

T. Mima, M. Morita, Y. Sankai, 2021, Orphanet Journal of Rare Diseases.

Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome.

T. Miyashita, K. Nagao, Kayoko Saito, 2013, Oral surgery, oral medicine, oral pathology and oral radiology.

A sibling case of Wolfram syndrome with a novel mutation Y652X in WFS1

Kayoko Saito, N. Iwasaki, M. Ogata, 2014, Diabetology International.

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

A. V. van Kuilenburg, L. Zoetekouw, Y. Takeshima, 2014, Journal of Inherited Metabolic Disease.

Study on surgical treatment of intractable childhood epilepsy

H. Shimizu, Kayoko Saito, M. Oda, 1998, Brain and Development.

Neurofilament light chain polypeptide gene mutations in Charcot–Marie–Tooth disease: nonsense mutation probably causes a recessive phenotype

Kayoko Saito, K. Hayasaka, N. Oka, 2009, Journal of Human Genetics.

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

I. Kanazawa, S. Tsuji, Toshihiro Hayashi, 2014, Journal of Human Genetics.

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

I. Kanazawa, S. Tsuji, Toshihiro Hayashi, 2014, Journal of Human Genetics.

Surgical Indication for Refractory Childhood Epilepsy

H. Shimizu, Kayoko Saito, H. Oguni, 2000, Epilepsia.

Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients.

H. Hara, H. Nishio, N. Harahap, 2020, The Kobe journal of medical sciences.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

Replication stress increases mitochondrial metabolism and mitophagy in FANCD2 deficient fetal liver hematopoietic stem cells

A. Iwama, M. Grompe, Kayoko Saito, 2023, Frontiers in Oncology.

A review of functional and structural components of the respiratory center involved in the arousal response.

Yoshiaki Saito, Kayoko Saito, Makio Kobayashi, 2002, Sleep medicine.

TRH therapy in a patient with juvenile Alexander disease

Kayoko Saito, M. Funatsuka, M. Ōsawa, 2006, Brain and Development.

Association between SLCO1B1 rs4149056 and tegafur-uracil-induced hepatic dysfunction in breast cancer.

Kayoko Saito, S. Kameoka, H. Kanno, 2019, Pharmacogenomics.

Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation

Kayoko Saito, N. Shibata, M. Ōsawa, 1997, Acta Neuropathologica.

Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

Y. Takeshima, H. Nishio, M. Matsuo, 2019, The Kobe journal of medical sciences.

Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0

Kayoko Saito, R. Kira, S. Akamine, 2019, Annals of neurology.

Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings

Kayoko Saito, M. Ōsawa, S. Kumada, 2004, Brain and Development.

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.

A. V. van Kuilenburg, L. Zoetekouw, R. Hennekam, 2012, Biochimica et biophysica acta.

Three patients with severe bilateral frontoparietal polymicrogyria.

T. Nakayama, Kayoko Saito, M. Funatsuka, 2008, Pediatric neurology.

Mowat-Wilson Syndrome Affecting 3 Siblings

T. Nakayama, Kayoko Saito, H. Oguni, 2008, Journal of child neurology.

Renal dysfunction is rare in Fukuyama congenital muscular dystrophy

Kayoko Saito, Takatoshi Sato, M. Funatsuka, 2019, Brain and Development.

Pancreatic developmental defect evaluated by celiac artery angiography in a patient with MODY5

Kayoko Saito, N. Iwasaki, M. Ogata, 2016, Human Genome Variation.

Human first-trimester chorionic villi have a myogenic potential

Kayoko Saito, M. Arakawa, R. Arakawa, 2012, Cell and Tissue Research.

The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Kayoko Saito, Takatoshi Sato, M. Ōsawa, 2017, Neuromuscular Disorders.

INF2 mutations in Charcot‐Marie‐Tooth disease complicated with focal segmental glomerulosclerosis

Kayoko Saito, H. Tsukaguchi, K. Hayasaka, 2013, Journal of the peripheral nervous system : JPNS.

A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms

Kayoko Saito, M. Kondo, H. Kondo, 2010, Japanese Journal of Ophthalmology.

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

N. Matsumoto, Kayoko Saito, N. Miyake, 2017, Brain and Development.

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

Kayoko Saito, S. Kure, M. Uematsu, 2023, Pediatric Neurology.

Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.

I. Kanazawa, Y. Nakamura, K. Tokunaga, 1996, American journal of human genetics.

Dysferlin mutations in Japanese Miyoshi myopathy

Y. Itoyama, I. Nonaka, Kayoko Saito, 2003, Neurology.

A clinical and pathologic study of a large Japanese family with Machado‐ Joseph disease tightly linked to the DNA markers on chromosome 14q

S. Tsuji, Kayoko Saito, K. Saito, 1994, Neurology.

Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20 week fetus

Kayoko Saito, N. Shibata, T. Toda, 1996 .

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

I. Nishino, S. Matsuura, Kayoko Saito, 2023, American journal of human genetics.

The mildest known case of Fukuyama-type congenital muscular dystrophy

T. Akiyama, Kayoko Saito, J. Hattori, 2006, Brain and Development.

Case report The mildest known case of Fukuyama-type congenital muscular dystrophy

T. Akiyama, Kayoko Saito, J. Hattori, 2006 .

Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy in Presymptomatic Spinal Muscular Atrophy: SPR1NT Study Update (2384)

R. Finkel, K. Strauss, J. Mendell, 2020, Neurology.

Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan

M. Eguchi, H. Nishio, Kayoko Saito, 2020, Brain and Development.

Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

U. Stephani, H. Lerche, Y. Weber, 2004, Epilepsia.

A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes

Kayoko Saito, M. Ōsawa, T. Fukuda, 2003, Brain and Development.

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan

Kayoko Saito, T. Toda, M. Ōsawa, 2017, Journal of Human Genetics.

Psychological characteristics of patients with psychogenic halitosis

H. Amemiya, Kayoko Saito, H. Tojo, 1991 .

Long-term outcomes of pediatric moyamoya disease monitored to adulthood.

Kayoko Saito, M. Ōsawa, Y. Fukuyama, 1998, Pediatric neurology.

Long‐term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat‐D to E

Kayoko Saito, Toshiyuki Yamamoto, M. Matsuo, 2018, Congenital anomalies.

Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients

Kayoko Saito, R. Arakawa, K. Kaneko, 2017, Brain and Development.